Unraveling the genetic etiology of autism

Autism is a neuropsychiatric disorder exhibiting a complex genetic etiology with significant clinical and genetic heterogeneity. Autism predominantly affects males compared to females, leading to significant interest into the cause of this sex bias in disease risk or expression. This research will follow up on initial studies that implicate a network of gene loci critical for the development and regulation of the neurotransmitter serotonin in autism. The nature and extent of susceptibility associated with the serotonin (5-HT) transporter (SLC6A4) and integrin 33 (ITGB3) loci will be determined. These genes lie within a chromosome region that confers significant male-biased genetic risk in autism. This project will advance understanding of how genetic variation affects expression and function of proteins controlling development and interconnection of a vital neurotransmitter system that is implicated in the etiologies of autism and many other disorders.